Ccrs3^{BTBR T-+- Itpr3-tf/J}
QTL Variant Detail

Summary

• QTL variant: Ccrs3^{BTBR T-+- Itpr3-tf/J}
• Name: corpus callosum hemisphere surface size 3; BTBR T-+- Itpr3-tf/J
• MGI ID: MGI:3828828
• QTL: Ccrs3 Location: unknown Genetic Position: ChrX, Syntenic

Variant origin

• Strain of Specimen: BTBR T⁺ Itpr3^tf/J

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers increased incidence of corpus callosum agenesis compared to BALB/cByJ. (J:137289)
• Inheritance: Dominant

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Notes

Mapping and Phenotype information for this QTL, its variants and associated markers

J:137289

Inbred strain BTBR T⁺ tf/J displays total absence of the corpus callosum and severely reduced hippocampal commissure while inbred strain BALB/cByJ displays consistently normal hippocampal commissure and a low incidence of agenesis of the corpus callosum. F1 crosses between BTBR T⁺ tf/J and BALB/cByJ indicate the phenotype is X-linked. Male (BTBR T⁺ tf/J x BALB/cByJ)F1 animals displayed a higher incidence of corpus callosum abnormalities compared to male (BALB/cByJ x BTBR T⁺ tf/J)F1 animals suggesting susceptibility to corpus callosum agenesis is contributed by the BTBR strain. Hippocampal commissure size did not appear to correlate with X chromosome inheritance.

A population of 420 males derived from (BALB/cByJ x BTBR T⁺ tf/J)F1 backcrossed to BALB/cByJ or BTBR T⁺ tf/J were used to map the corpus callosum locus by identifying X chromosome recombination events. Animals were phenotyped at 8 weeks of age. Significant linkage to corpus callosum size mapped to 29.5 cM (68.5 Mb) near rs13483824 (LRS=9.8) and is named Ccrs3 (corpus callosum hemisphere surface size 3). Highly significant linkage to corpus callosum size mapped to 60.5 cM (134.5 Mb) near rs13484035 (LRS=12.4) and is named Ccrs4 (corpus callosum hemisphere surface size 4). BTBR-derived alleles at Ccrs3 and Ccrs4 confer decreased corpus callosum size with dominant inheritance. L1cam (29.5 cM) is a potential candidate gene for Ccrs3 while Dcx (140.29 Mb) is a potential candidate gene for Ccrs4.

References

• Original: J:137289 Kusek GK, et al., Localization of two new X-linked quantitative trait loci controlling corpus callosum size in the mouse. Genes Brain Behav. 2007 Jun;6(4):359-63
• All: 2 reference(s)